ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) (rs1247378731)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672395 SCV000797494 likely pathogenic Fanconi anemia, complementation group A 2018-01-26 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000672395 SCV000889967 pathogenic Fanconi anemia, complementation group A 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV001384720 SCV001584343 pathogenic Fanconi anemia 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr843*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 15643609, 16084127). ClinVar contains an entry for this variant (Variation ID: 556394). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000672395 SCV001425824 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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